未登录 Heritability of Long-Term Complications in Classic Galactosemia 经典半乳糖血症长期并发症的遗传力 Garrett, Olivia S.; Smith, Nicole H.; Cutler, David J.; Wu, Yuhan; Knerr, Ina; Pereira, Doireann; Rubio-Gozalbo, M. Estela; Vos, E. Naomi; Harrison, Megan; Pappas, Kara; Coman, David; Stepien, Karolina M.; Karall, Daniela; Margreitter, Julian; Scholl-Burgi, Sabine; Heisler, Madison A.; Lam, Christina; Mills, Maria R.; Belanger, Emilia; Yu, Andrea C.; Fridovich-Keil, Judith L. 分享 收藏
分享 收藏
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis (Vol 135, e200195, 2025) Gehin, Charlotte; Lone, Museer A.; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Gerkes, Erica H.; Stegmann, Alexander P. A.; Lopez-Martin, Estrella; Bermejo-Sanchez, Eva; Martinez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Grafe, Daniel; Knerr, Ina; Jones, Eppie R.; Zamuner, Stefano; Abriata, Luciano A.; Kunnathully, Vidya; Moeller, Brandon E.; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; Van Bon, Bregje W.; Pfundt, Rolph; Willemsen, Marjolein H.; Schieving, Jolanda H.; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R.; Beier, Christoph P.; Larsen, Martin J.; Valenzuela, Irene; Fernandez-Alvarez, Paula; Xiong, Shiyi; Smigiel, Robert; Lopez-Gonzalez, Vanesa; Armengol, Lluis; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S.; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Mau-Them, Frederic Tran; Maddocks, Alexis B. R.; Bain, Jennifer M.; Bhat, Musadiq A.; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L.; Friez, Michael J.; Richardson, Ellen B.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Gupta, Yask; Lim, Tze Y.; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E.; Jaksic, Ana Marija; Mccabe, Brian D.; De Los Rios, Paolo; Hornemann, Thorsten; D'angelo, Giovanni; Gennarino, Vincenzo A. 分享 收藏
分享 收藏
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency Latzer, Itay Tokatly; Bertoldi, Mariarita; Blau, Nenad; DiBacco, Melissa L.; Elsea, Sarah H.; Garcia-Cazorla, Angels; Gibson, K. Michael; Gropman, Andrea L.; Hanson, Ellen; Hoffman, Carolyn; Jeltsch, Kathrin; Julia-Palacios, Natalia; Knerr, Ina; Lee, Henry H. C.; Malaspina, Patrizia; McConnell, Alice; Opladen, Thomas; Oppeboen, Mari; Rotenberg, Alexander; Walterfang, Mark; Wang-Tso, Lee; Wevers, Ron A.; Roullet, Jean-Baptiste; Pearl, Phillip L. 分享 收藏
分享 收藏
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis Gehin, Charlotte; Lone, Museer A.; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Gerkes, Erica H.; Stegmann, Alexander P. A.; Lopez-Martin, Estrella; Bermejo-Sanchez, Eva; Martinez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Graefe, Daniel; Knerr, Ina; Jones, Eppie R.; Zamuner, Stefano; Abriata, Luciano A.; Kunnathully, Vidya; Moeller, Brandon E.; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; Bon, Bregje W. van; Pfundt, Rolph; Willemsen, Marjolein H.; Schieving, Jolanda H.; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R.; Beier, Christoph P.; Larsen, Martin J.; Valenzuela, Irene; Fernandez-alvarez, Paula; Xiong, Shiyi; Smigiel, Robert; Lopez-Gonzalez, Vanesa; Armengol, Lluis; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S.; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Mau-Them, Frederic Tran; Maddocks, Alexis B. R.; Bain, Jennifer M.; Bhat, Musadiq A.; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L.; Friez, Michael J.; Richardson, Ellen B.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Gupta, Yask; Lim, Tze Y.; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E.; Jaksic, Ana Marjia; McCabe, Brian D.; Rios, Paolo De Los; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A. 分享 收藏
分享 收藏
分享 收藏
Biochemical testing for inborn errors of metabolism: experience from a large tertiary neonatal centre Dunne, Esme; O'Reilly, Daniel; Murphy, Claire A.; Howard, Caoimhe; Kelleher, Grainne; Suttie, Thomas; Boyle, Michael A.; Brady, Jennifer J.; Knerr, Ina; El Khuffash, Afif 分享 收藏
Translating principles of precision medicine into speech-language pathology: Clinical trial of a proactive speech and language intervention for infants with classic galactosemia Peter, Beate; Davis, Jennifer; Finestack, Lizbeth; Stoel-Gammon, Carol; VanDam, Mark; Bruce, Laurel; Kim, Yookyung; Eng, Linda; Cotter, Sarah; Landis, Emily; Beames, Sam; Scherer, Nancy; Knerr, Ina; Williams, Delaney; Schrock, Claire; Potter, Nancy 分享 收藏
Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience Boruah, Ritma; Monavari, Ahmad Ardeshir; Conlon, Tracey; Murphy, Nuala; Stroiescu, Andreea; Ryan, Stephanie; Hughes, Joanne; Knerr, Ina; McDonnell, Ciara; Crushell, Ellen 分享 收藏
Galactokinase deficiency: lessons from the GalNet registry 半乳糖激酶缺乏症: 来自GalNet注册表的教训 Rubio-Gozalbo, M. Estela; Derks, Britt; Das, Anibh Martin; Meyer, Uta; Moeslinger, Dorothea; Couce, M. Luz; Empain, Aurelie; Ficicioglu, Can; Palacios, Natalia Julia; De Los Santos De Pelegrin, Mariela M.; Rivera, Isabel A.; Scholl-Buergi, Sabine; Bosch, Annet M.; Cassiman, David; Demirbas, Didem; Gautschi, Matthias; Knerr, Ina; Labrune, Philippe; Skouma, Anastasia; Verloo, Patrick; Wortmann, Saskia B.; Treacy, Eileen P.; Timson, David J.; Berry, Gerard T. 分享 收藏
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective 新型冠状病毒肺炎大流行对先天性代谢错误的诊断和管理的影响: 全球视角 Elmonem, Mohamed A.; Belanger-Quintana, Amaya; Bordugo, Andrea; Boruah, Ritma; Cortes-Saladelafont, Elisenda; Endrakanti, Mounika; Giraldo, Pilar; Gruenert, Sarah Catharina; Gupta, Neerja; Kabra, Madhulika; Knerr, Ina; Kraemer, Johannes; Kuster, Alice; Levtchenko, Elena; Ngu, Lock-Hock; Rovira-Remisa, M. Mar; Sass, Joern Oliver; Sykut-Cegielska, Jolanta; Tummolo, Albina; van den Heuvel, Lambertus P. 分享 收藏
The natural history of classic galactosemia: lessons from the GalNet registry Rubio-Gozalbo, M. E.; Haskovic, M.; Bosch, A. M.; Burnyte, B.; Coelho, A. I.; Cassiman, D.; Couce, M. L.; Dawson, C.; Demirbas, D.; Derks, T.; Eyskens, F.; Forga, M. T.; Grunewald, S.; Haberle, J.; Hochuli, M.; Hubert, A.; Huidekoper, H. H.; Janeiro, P.; Kotzka, J.; Knerr, I.; Labrune, P.; Landau, Y. E.; Langendonk, J. G.; Moeslinger, D.; Mueller-Wieland, D.; Murphy, E.; Ounap, K.; Ramadza, D.; Rivera, I. A.; Scholl-Buergi, S.; Stepien, K. M.; Thijs, A.; Tran, C.; Vara, R.; Visser, G.; Vos, R.; de Vries, M.; Waisbren, S. E.; Welsink-Karssies, M. M.; Wortmann, S. B.; Gautschi, M.; Treacy, E. P.; Berry, G. T. 分享 收藏
Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions Colhoun, Hugh-Owen; Gozalbo, Estela M. Rubio; Bosch, Annet M.; Knerr, Ina; Dawson, Charlotte; Brady, Jennifer; Galligan, Marie; Stepien, Karolina; O'Flaherty, Roisin; Moss, C. Catherine; Barker, P. Peter; Fitzgibbon, Maria; Doran, Peter P.; Treacy, Eileen P. 分享 收藏
Catalogue of inherited disorders found among the Irish Traveller population Lynch, Sally Ann; Crushell, Ellen; Lambert, Deborah M.; Byrne, Niall; Gorman, Kathleen; King, Mary D.; Green, Andrew; O'Sullivan, Siobhan; Browne, Fiona; Hughes, Joanne; Knerr, Ina; Monavari, Ahmad A.; Cotter, Melanie; McConnell, Vivienne P. M.; Kerr, Bronwyn; Jones, Simon A.; Keenan, Catriona; Murphy, Nuala; Cody, Declan; Ennis, Sean; Turner, Jackie; Irvine, Alan D.; Casey, Jillian 分享 收藏
分享 收藏
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype Alston, Charlotte L.; Howard, Caoimhe; Olahova, Monika; Hardy, Steven A.; He, Langping; Murray, Philip G.; O'Sullivan, Siobhan; Doherty, Gary; Shield, Julian P. H.; Hargreaves, Iain P.; Monavari, Ardeshir A.; Knerr, Ina; McCarthy, Peter; Morris, Andrew A. M.; Thorburn, David R.; Prokisch, Holger; Clayton, Peter E.; McFarland, Robert; Hughes, Joanne; Crushell, Ellen; Taylor, Robert W. 分享 收藏
Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis Maratha, Ashwini; Stockmann, Henning; Coss, Karen P.; Rubio-Gozalbo, M. Estela; Knerr, Ina; Fitzgibbon, Maria; McVeigh, Terri P.; Foley, Patricia; Moss, Catherine; Colhoun, Hugh-Owen; van Erven, Britt; Stephens, Kelly; Doran, Peter; Rudd, Pauline; Treacy, Eileen 分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
